News

In Fabry disease, a protein called alpha-synuclein forms clumps inside kidney cells, a toxic buildup that isn’t reversed by conventional treatments. Reducing that buildup can reverse cell damage, opening potential avenues for new treatment strategies, according to “Synuclein [alpha] accumulation mediates podocyte injury in Fabry nephropathy,” which…

More than half of adults with Fabry disease were found to have heart involvement that put them at risk for cardiac events — here, primarily associated with irregular heartbeat and heart failure, according to a new MRI study. While an enlarged heart muscle and scar tissue formation were associated…

PRX-102 (pegunigalsidase alfa) has been approved by the U.S. Food and Drug Administration (FDA) to treat adults with Fabry disease. Now branded Elfabrio (pegunigalsidase alfa-iwxj), the enzyme replacement therapy (ERT) is to be given as an intravenous, or into the vein, infusion every two weeks. It was codeveloped…

Fabry disease remains widely underdiagnosed, especially among women, according to a new population-based study that identified one undiagnosed case per every 3,225 people. The study found that the genetic mutations that cause Fabry, a rare disorder primarily affecting the heart, nervous system, and kidneys, are more common than…

Patients prefer receiving enzyme replacement therapy (ERT) at home, citing savings in travel time and cost, over clinical visits, according to a survey of people with Fabry disease and other lysosomal storage disorders in Germany. “All patients would recommend home-based ERT to other patients” during the two-year follow-up…

Centogene has extended its partnership with Takeda to keep providing genetic testing services for the diagnosis of lysosomal storage disorders, including Fabry disease. Under the new deal, Takeda will continue to access the diagnostics service for another year. Lysosomal storage diseases, which are characterized by an abnormal…

Freeline Therapeutics is pausing development of FLT190, an experimental gene therapy for Fabry disease. The move will let the company free up funds to focus on advancing FLT201, a gene therapy being developed to treat another genetic disorder called Gaucher disease. “While we remain encouraged by the…

For this year’s Fabry Awareness Month — observed every April to bring attention to Fabry disease — the spotlight is on the everyday heroes who live with the rare genetic lysosomal storage disorder. Activities during the month are aimed at heightening awareness among the general public, in addition to…

Scientists have engineered versions of the alpha-galactosidase A (Gal A) enzyme that could eventually be used to produce a more stable and effective enzyme replacement therapy (ERT) for Fabry disease. In animal models, the modified enzymes lasted longer in the bloodstream and showed better activity in target tissues like…

The same mutation caused both late-onset and classic forms of Fabry disease among different members of the same family, according to a new report. “To our knowledge, there are no previous reports showing that the same missense mutation causes both late-onset and classic form of [Fabry disease] in male…